المؤلفون: Celine Chalas, Aline Receveur, Nelly Frydman, Nathalie Massin, Gerard Tachdjian, Veronique Drouineaud, Alexandra Benachi, Catherine Patrat, Francois Michael Petit

المصدر: Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Germline mosaicism, Chromosomal rearrangement, FISH, Spermatozoa, Sperm donation, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12610-020-00113-5Test; https://doaj.org/toc/2051-4190Test

الوصول الحر: https://doaj.org/article/78ee1189a2164bb3a036f6d8ed754152Test

المؤلفون: Chloé Puisney-Dakhli, G Tachdjian, Hanane Bouchghoul, Francesca Gubana, Valérie Gautier, Aline Receveur, Francois Michael Petit, Jelena Martinovic

المصدر: American Journal of Medical Genetics Part A. 185:1494-1497

مصطلحات موضوعية: Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, Fetus, medicine.diagnostic_test, Heart malformation, business.industry, Prenatal diagnosis, medicine.disease, Hypoplastic left heart syndrome, Genetics, medicine, Fetal Examination, business, Increased nuchal translucency, Genetics (clinical), Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9b05e7297c257f541e71d34d742ba80Test
https://doi.org/10.1002/ajmg.a.62105Test

المؤلفون: Philippe Labrune, Giuseppe Ronzitti, Édouard Berling, Karim Wahbi, Alan O’Brien, Francois Michael Petit, Pascal Laforêt

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Raymond Poincaré [AP-HP], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), AP-HP - Hôpital Antoine Béclère [Clamart], Petites Molécules de neuroprotection, neurorégénération et remyélinisation, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR‐17‐CE18‐0014, Giuseppe Ronzitti has been supported by Genethon, the 'Association Française contre la Myopathie,' the 'Association Francophone des Glycogénoses,' and the National Research Agency (ANR‐17‐CE18‐0014). All the other authors received no funding for this work., ANR-17-CE18-0014,TRACeGSDIII,Optimisation translationnelle d'un vecteur AAV pour le traitement de GSDIII(2017), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.521-533. ⟨10.1002/jimd.12355⟩
Journal of Inherited Metabolic Disease, 2021, 44 (3), pp.521-533. ⟨10.1002/jimd.12355⟩

مصطلحات موضوعية: Adult, [SDV]Life Sciences [q-bio], Cardiomyopathy, Exercise intolerance, Hypoglycemia, Bioinformatics, Glycogen debranching enzyme activity, Glycogen Storage Disease Type III, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Muscular Diseases, glycogen storage disorder, Genetics, medicine, Animals, Humans, Child, Muscle, Skeletal, Myopathy, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Glycogen, business.industry, Genetic Therapy, metabolic disease, medicine.disease, gene therapy, 3. Good health, Review article, Disease Models, Animal, hypoglycemia, Liver, chemistry, Failure to thrive, medicine.symptom, business, cardiomyopathy, 030217 neurology & neurosurgery, Hepatomegaly, myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb96fc05f903b6ee290a8ee0bab7c7aTest
https://doi.org/10.1002/jimd.12355Test

المؤلفون: Nathalie Massin, Alexandra Benachi, Véronique Drouineaud, G Tachdjian, Céline Chalas, Nelly Frydman, Catherine Patrat, Aline Receveur, Francois Michael Petit

المصدر: Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-6 (2020)
Basic and Clinical Andrology

مصطلحات موضوعية: Sperm donation, Urology, Population, Germline mosaicism, Chromosomal rearrangement, Biology, Mosaïque germinale, Germline, Don de spermatozoïdes, film.subject, FISH, medicine, Spermatozoïde, Copy-number variation, education, Genetics, education.field_of_study, Pregnancy, lcsh:R5-920, medicine.diagnostic_test, medicine.disease, Spermatozoa, Réarrangement chromosomique, Reproductive Medicine, film, Amniocentesis, lcsh:Medicine (General), Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82205a3641b76794c000a4c6cc3713a5Test
http://link.springer.com/article/10.1186/s12610-020-00113-5Test

المؤلفون: Célina Roda, Pascale de Lonlay pascale, Clément Pontoizeau, Pierre-Jean Bérat, Pauline Gaignard, Guy Touati, Elise Lebigot, Jean-Baptiste Arnoux, M. Assoun, Valérie Barbier, Sandrine Dubois, Camille Wicker, Cécile Talbotec, Claire Belloche, Virginie Leboeuf, Anaïs Brassier, Aude Servais, Juliette Bouchereau, Chris Ottolenghi, Francois Michael Petit, F. Campeotto, Claire-Marine Bérat

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100655-(2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Context (language use), Disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, food, Genetics, medicine, In patient, Molecular Biology, lcsh:QH301-705.5, Enteral Tube Feeding, 0303 health sciences, lcsh:R5-920, Maple syrup, business.industry, 030305 genetics & heredity, Dietary management, Gastrostomy, food.food, lcsh:Biology (General), Cohort, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc665b996ce23377d350d48ae146c71Test
https://pubmed.ncbi.nlm.nih.gov/33473351Test

المؤلفون: Norma B. Romero, Jean-Yves Hogrel, Francois Michael Petit, Michela Bisciglia, Tanya Stojkovic, Roseline Froissart, Magali Pettazzoni, Anne Laure Bedat-Millet

المصدر: Journal of the Neurological Sciences. 424:117391

مصطلحات موضوعية: myalgia, medicine.medical_specialty, Phosphorylase Kinase, Exercise intolerance, medicine.disease_cause, Muscle hypertrophy, 03 medical and health sciences, Glycogen phosphorylase, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Cognitive Dysfunction, 030212 general & internal medicine, Phosphorylase kinase, Myopathy, Mutation, business.industry, Myoglobinuria, Glycogen Storage Disease, medicine.disease, Endocrinology, Neurology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f36600deb6646f2990944a044eecf6Test
https://doi.org/10.1016/j.jns.2021.117391Test